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Q96D53

- ADCK4_HUMAN

UniProt

Q96D53 - ADCK4_HUMAN

Protein

AarF domain-containing protein kinase 4

Gene

ADCK4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 2 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    May play a role in CoQ10 (COQ10A and/or COQ10B) biosynthesis, which is required for podocyte migration.1 Publication

    GO - Molecular functioni

    1. protein serine/threonine kinase activity Source: UniProtKB-KW

    Keywords - Molecular functioni

    Kinase, Serine/threonine-protein kinase, Transferase

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    AarF domain-containing protein kinase 4 (EC:2.7.11.-)
    Gene namesi
    Name:ADCK4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:19041. ADCK4.

    Subcellular locationi

    Mitochondrion membrane 1 Publication; Single-pass membrane protein 1 Publication. Cytoplasmcytosol 1 Publication. Cell membrane 1 Publication

    GO - Cellular componenti

    1. cytosol Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW
    3. mitochondrial membrane Source: UniProtKB-SubCell
    4. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Membrane, Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Nephrotic syndrome 9 (NPHS9) [MIM:615573]: A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti178 – 1781R → W in NPHS9. 1 Publication
    VAR_070552
    Natural varianti286 – 2861D → G in NPHS9. 1 Publication
    VAR_070553
    Natural varianti320 – 3201R → W in NPHS9. 1 Publication
    VAR_070554
    Natural varianti343 – 3431R → W in NPHS9. 1 Publication
    VAR_070555
    Natural varianti477 – 4771R → Q in NPHS9. 1 Publication
    VAR_070556

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi615573. phenotype.
    Orphaneti93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
    PharmGKBiPA134988974.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 544544AarF domain-containing protein kinase 4PRO_0000271797Add
    BLAST

    Proteomic databases

    MaxQBiQ96D53.
    PaxDbiQ96D53.
    PRIDEiQ96D53.

    PTM databases

    PhosphoSiteiQ96D53.

    Expressioni

    Tissue specificityi

    Widely expressed, including renal podocytes.1 Publication

    Gene expression databases

    ArrayExpressiQ96D53.
    BgeeiQ96D53.
    CleanExiHS_ADCK4.
    GenevestigatoriQ96D53.

    Organism-specific databases

    HPAiHPA027229.
    HPA027277.
    HPA027279.

    Interactioni

    Subunit structurei

    Interacts with COQ6 and COQ7.1 Publication

    Protein-protein interaction databases

    BioGridi123009. 2 interactions.
    IntActiQ96D53. 1 interaction.
    STRINGi9606.ENSP00000315118.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96D53.
    SMRiQ96D53. Positions 320-396.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei92 – 10817HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini191 – 423233Protein kinaseAdd
    BLAST

    Sequence similaritiesi

    Contains 1 protein kinase domain.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0661.
    HOGENOMiHOG000201140.
    HOVERGENiHBG061318.
    InParanoidiQ96D53.
    KOiK08869.
    OMAiLPTKGDS.
    OrthoDBiEOG7X9G6H.
    PhylomeDBiQ96D53.
    TreeFamiTF300630.

    Family and domain databases

    InterProiIPR011009. Kinase-like_dom.
    IPR004147. UbiB_dom.
    [Graphical view]
    PfamiPF03109. ABC1. 1 hit.
    [Graphical view]
    SUPFAMiSSF56112. SSF56112. 2 hits.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96D53-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MWLKVGGLLR GTGGQLGQTV GWPCGALGPG PHRWGPCGGS WAQKFYQDGP    50
    GRGLGEEDIR RAREARPRKT PRPQLSDRSR ERKVPASRIS RLANFGGLAV 100
    GLGLGVLAEM AKKSMPGGRL QSEGGSGLDS SPFLSEANAE RIVQTLCTVR 150
    GAALKVGQML SIQDNSFISP QLQHIFERVR QSADFMPRWQ MLRVLEEELG 200
    RDWQAKVASL EEVPFAAASI GQVHQGLLRD GTEVAVKIQY PGIAQSIQSD 250
    VQNLLAVLKM SAALPAGLFA EQSLQALQQE LAWECDYRRE AACAQNFRQL 300
    LANDPFFRVP AVVKELCTTR VLGMELAGGV PLDQCQGLSQ DLRNQICFQL 350
    LTLCLRELFE FRFMQTDPNW ANFLYDASSH QVTLLDFGAS REFGTEFTDH 400
    YIEVVKAAAD GDRDCVLQKS RDLKFLTGFE TKAFSDAHVE AVMILGEPFA 450
    TQGPYDFGSG ETARRIQDLI PVLLRHRLCP PPEETYALHR KLAGAFLACA 500
    HLRAHIACRD LFQDTYHRYW ASRQPDAATA GSLPTKGDSW VDPS 544
    Length:544
    Mass (Da):60,069
    Last modified:October 1, 2002 - v2
    Checksum:i4645DF579B9DFA4B
    GO
    Isoform 2 (identifier: Q96D53-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         123-163: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:503
    Mass (Da):55,853
    Checksum:i547A81982FE22A6A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti164 – 1663DNS → GTA in BAB14004. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti78 – 781R → C.1 Publication
    Corresponds to variant rs11538384 [ dbSNP | Ensembl ].
    VAR_041420
    Natural varianti174 – 1741H → R.1 Publication
    Corresponds to variant rs3865452 [ dbSNP | Ensembl ].
    VAR_029995
    Natural varianti178 – 1781R → W in NPHS9. 1 Publication
    VAR_070552
    Natural varianti286 – 2861D → G in NPHS9. 1 Publication
    VAR_070553
    Natural varianti318 – 3181T → M.1 Publication
    Corresponds to variant rs55899516 [ dbSNP | Ensembl ].
    VAR_041421
    Natural varianti320 – 3201R → W in NPHS9. 1 Publication
    VAR_070554
    Natural varianti343 – 3431R → W in NPHS9. 1 Publication
    VAR_070555
    Natural varianti352 – 3521T → R.1 Publication
    Corresponds to variant rs36012476 [ dbSNP | Ensembl ].
    VAR_041422
    Natural varianti462 – 4621T → M.1 Publication
    Corresponds to variant rs56083906 [ dbSNP | Ensembl ].
    VAR_041423
    Natural varianti477 – 4771R → Q in NPHS9. 1 Publication
    VAR_070556

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei123 – 16341Missing in isoform 2. 1 PublicationVSP_022357Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC013114 mRNA. Translation: AAH13114.2.
    BC027473 mRNA. Translation: AAH27473.1.
    AK022291 mRNA. Translation: BAB14004.1.
    CCDSiCCDS12562.1. [Q96D53-1]
    CCDS46081.1. [Q96D53-2]
    RefSeqiNP_001136027.1. NM_001142555.2. [Q96D53-2]
    NP_079152.3. NM_024876.3. [Q96D53-1]
    XP_005259328.1. XM_005259271.2. [Q96D53-1]
    XP_005259329.1. XM_005259272.2. [Q96D53-1]
    XP_005259330.1. XM_005259273.2. [Q96D53-1]
    XP_005259331.1. XM_005259274.1. [Q96D53-1]
    XP_006723455.1. XM_006723392.1. [Q96D53-1]
    XP_006723456.1. XM_006723393.1. [Q96D53-1]
    XP_006723457.1. XM_006723394.1. [Q96D53-1]
    UniGeneiHs.130712.

    Genome annotation databases

    EnsembliENST00000243583; ENSP00000243583; ENSG00000123815. [Q96D53-2]
    ENST00000324464; ENSP00000315118; ENSG00000123815. [Q96D53-1]
    GeneIDi79934.
    KEGGihsa:79934.
    UCSCiuc002ooq.2. human. [Q96D53-2]
    uc002oor.2. human. [Q96D53-1]

    Polymorphism databases

    DMDMi74731415.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC013114 mRNA. Translation: AAH13114.2 .
    BC027473 mRNA. Translation: AAH27473.1 .
    AK022291 mRNA. Translation: BAB14004.1 .
    CCDSi CCDS12562.1. [Q96D53-1 ]
    CCDS46081.1. [Q96D53-2 ]
    RefSeqi NP_001136027.1. NM_001142555.2. [Q96D53-2 ]
    NP_079152.3. NM_024876.3. [Q96D53-1 ]
    XP_005259328.1. XM_005259271.2. [Q96D53-1 ]
    XP_005259329.1. XM_005259272.2. [Q96D53-1 ]
    XP_005259330.1. XM_005259273.2. [Q96D53-1 ]
    XP_005259331.1. XM_005259274.1. [Q96D53-1 ]
    XP_006723455.1. XM_006723392.1. [Q96D53-1 ]
    XP_006723456.1. XM_006723393.1. [Q96D53-1 ]
    XP_006723457.1. XM_006723394.1. [Q96D53-1 ]
    UniGenei Hs.130712.

    3D structure databases

    ProteinModelPortali Q96D53.
    SMRi Q96D53. Positions 320-396.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123009. 2 interactions.
    IntActi Q96D53. 1 interaction.
    STRINGi 9606.ENSP00000315118.

    Chemistry

    BindingDBi Q96D53.
    ChEMBLi CHEMBL5753.
    GuidetoPHARMACOLOGYi 1928.

    PTM databases

    PhosphoSitei Q96D53.

    Polymorphism databases

    DMDMi 74731415.

    Proteomic databases

    MaxQBi Q96D53.
    PaxDbi Q96D53.
    PRIDEi Q96D53.

    Protocols and materials databases

    DNASUi 79934.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000243583 ; ENSP00000243583 ; ENSG00000123815 . [Q96D53-2 ]
    ENST00000324464 ; ENSP00000315118 ; ENSG00000123815 . [Q96D53-1 ]
    GeneIDi 79934.
    KEGGi hsa:79934.
    UCSCi uc002ooq.2. human. [Q96D53-2 ]
    uc002oor.2. human. [Q96D53-1 ]

    Organism-specific databases

    CTDi 79934.
    GeneCardsi GC19M041199.
    HGNCi HGNC:19041. ADCK4.
    HPAi HPA027229.
    HPA027277.
    HPA027279.
    MIMi 615567. gene.
    615573. phenotype.
    neXtProti NX_Q96D53.
    Orphaneti 93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
    PharmGKBi PA134988974.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0661.
    HOGENOMi HOG000201140.
    HOVERGENi HBG061318.
    InParanoidi Q96D53.
    KOi K08869.
    OMAi LPTKGDS.
    OrthoDBi EOG7X9G6H.
    PhylomeDBi Q96D53.
    TreeFami TF300630.

    Miscellaneous databases

    ChiTaRSi ADCK4. human.
    GenomeRNAii 79934.
    NextBioi 69870.
    PROi Q96D53.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96D53.
    Bgeei Q96D53.
    CleanExi HS_ADCK4.
    Genevestigatori Q96D53.

    Family and domain databases

    InterProi IPR011009. Kinase-like_dom.
    IPR004147. UbiB_dom.
    [Graphical view ]
    Pfami PF03109. ABC1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56112. SSF56112. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Lymph and Placenta.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-166 (ISOFORM 1).
      Tissue: Mammary gland.
    3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    4. "Patterns of somatic mutation in human cancer genomes."
      Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
      , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
      Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS [LARGE SCALE ANALYSIS] CYS-78; ARG-174; MET-318; ARG-352 AND MET-462.
    5. Cited for: VARIANTS NPHS9 TRP-178; GLY-286; TRP-320; TRP-343 AND GLN-477, FUNCTION, INTERACTION WITH COQ6 AND COQ7, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiADCK4_HUMAN
    AccessioniPrimary (citable) accession number: Q96D53
    Secondary accession number(s): Q8TAJ1, Q9HA52
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 9, 2007
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 99 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Human and mouse protein kinases
      Human and mouse protein kinases: classification and index
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3